Articles about Genomics

CDC Scientific Articles

2023

Epigenome-wide association studies of prenatal maternal mental health and infant epigenetic profiles: a systematic review. Transl Psychiatry. 2023 Dec 7;13(1):377. Drzymalla E, Crider KS, Wang A, Gwinn M, Khoury MJ, Rasooly D.

Navigating epigenetic epidemiology publications. Epigenetics Communications, Volume 3, Article number: 8 (2023) Nov 22, 2023. Yu W, Drzymalla E, Gyorfy MF, Khoury MJ, Sun YV & Gwinn M.

Association Between a First-Degree Family History and Self-Reported Personal History of Obesity, Diabetes, and Heart and Blood Conditions: Results From the All of Us Research Program. J Am Heart Assoc. 2023 Nov 10:e030779. Rasooly D, Moonesinghe R, Littrell K, Hull L, Khoury MJ.

Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021. JCM, May 17, 2023. Drzymalla E, Moonesinghe R, Kolor K, Khoury MJ, Schieber L, Gundlapalli AV.

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort. Genome Med. 2023 Apr 18;15(1):26. Rao ND, Kaganovsky J, Malouf EA, Coe S, Huey J, Tsinajinne D, Hassan S, King KM, Fullerton SM, Chen AT, Shirts BH.

Understanding the Process of Family Cancer History Collection and Health Information Seeking. Health Educ Behav. 2023 Feb 16. Allen CG, Green RF, Dowling NF, Fairley TL, Khoury MJ.

2022

EDITORIAL: DNA-based Population Screening for Precision Public Health. Front. Genet. Sec. Human and Medical Genomics, Volume 13, 24 October 2022, doi: 10.3389/fgene.2022.1061329. Milko LV, Khoury MJ.

The Joint Public Health Impact of Family History of Diabetes and Cardiovascular Disease among Adults in the United States: A Population-Based Study. Public Health Genomics 2022 Oct 6;1-12. Rasooly D, Yang Q, Moonesinghe R, Khoury MJ, Patel CJ.

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review. Clin Immunol. 2022 Aug 13;109097. Drzymalla E, Green RF, Knuth M, Khoury MJ, Dotson WD, Gundlapalli A.

Addressing the routine failure to clinically identify monogenic cases of common disease. Genome Medicine 14, Article number: 60 (2022, Jun 7). Murray MF, Khoury MJ, Abul-Husn NS.

Health equity in the implementation of genomics and precision medicine: A public health imperative. Genetics in Medicine 2022 Apr 28; S1098-3600(22)00726-2. Khoury MJ, Bowen S, Dotson WD, Drzymalla E, Green RF, Goldstein R, Kolor K, Liburd LC, Sperling LS, Bunnell R.

COVID-19 GPH: tracking the contribution of genomics and precision health to the COVID-19 pandemic response. BMC Infectious Diseases, Volume 22, Article number: 402 (2022 Apr 25). Yu W, Drzymalla E, Gwinn M, Khoury MJ.

Prevalence of Americans reporting a family history of cancer indicative of increased cancer risk: Estimates from the 2015 National Health Interview Survey. Prev Med. 2022 Apr 20;107062. Kumerow MT, Rodriguez JL, Dai S, Kolor K, Rotunno M, Peipins LA.

2021

Association between maternal depression during pregnancy and newborn DNA methylation. Transl Psychiatry. 2021 Nov 8;11(1):572. Drzymalla E, Gladish N, Koen N, Epstein MP, Kobor MS, Zar HJ, Stein DJ, Hüls A.

The impact of genomics on precision public health: beyond the pandemic. Genome Med. 2021 Apr 23;13(1):67. Khoury MJ, Holt KE.

From genes to public health: are we ready for DNA-based population screening? Genet Med. 2021 Mar 31. Khoury MJ, Dotson WD.

Improving reporting standards for polygenic scores in risk prediction studies. Nature, Volume 591, pages 211–219 (2021 March 10). Wand H, Lambert SA, Tamburro C, Iacocca MA, O’Sullivan JW, Sillari C, Kullo IJ, Rowley R, Dron JS, Brockman D, Venner E, McCarthy MI, Antoniou AC, Easton DF, Hegele RA, Khera AV, Chatterjee N, Kooperberg C, Edwards K, Vlessis K, Kinnear K, Danesh JN, Parkinson H, Ramos EM, Roberts MC, Ormond KE, Khoury MJ, Janssens ACJW, Goddard KAB, Kraft P, MacArthur JAL, Inouye M, Wojcik GL.

Challenges and Opportunities for Communication about the Role of Genomics in Public Health. Public Health Genomics. 2021 Jan 14;1-7. Allen CG, Green RF, Bowen S, Dotson WD, Yu Y, Khoury MJ.

2020

Sexual Differences in Genetic Predisposition of Coronary Artery Disease. Circ Genom Precis Med. 2020 Dec 17. Huang Y, Hui Q, Gwinn M, Hu Y, Quyyumi AA, Vaccarino V, Sun YV.

The intersection of genomics and big data with public health: Opportunities for precision public health. PLoS Med. 2020 Oct 29;17(10):e1003373. Khoury MJ, Armstrong GL, Bunnell RE, Cyril J, Iademarco MF.

Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur J Hum Genet. 2020 Sep 18. Srinivasan S, Won NY, Dotson WD, Wright ST, Roberts MC.

Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework. Public Health Genomics. 2020 Sep 17;1-12. Green RF, Kumerow MT, Rodriguez JL, Addie S, Beachy SH, Senier L.

A scoping review of social and behavioral science research to translate genomic discoveries into population health impact. Transl Behav Med. 2020 Sep 9;ibaa076. Allen CG, Peterson S, Khoury MJ, Brody LC, McBride CM.

Precision Public Health as a Key Tool in the COVID-19 Response. JAMA. Published online August 12, 2020. Rasmussen SA, Khoury MJ, del Rio C.

Precision Health Analytics With Predictive Analytics and Implementation Research: JACC State-of-the-Art Review. J Am Coll Cardiol. 2020 Jul 21;76(3):306-320. Pearson TA, Califf RM, Roper R, Engelgau MM, Khoury MJ, Alcantara C, Blakely C, Boyce CA, Brown M, Croxton TL, Fenton K, Green Parker MC, Hamilton A, Helmchen L, Hsu LL, Kent DM, Kind A, Kravitz J, Papanicolaou GJ, Prosperi M, Quinn M, Price LN, Shireman PK, Smith SM, Szczesniak R, Goff DC Jr, Mensah GA.

Redundant meta-analyses are common in genetic epidemiology. J Clin Epidemiol. 2020 Jun 12;S0895-4356(19)30955-2. Sigurdson M, Khoury MJ, Ioannidis JPA.

A New Resource for Genomics and Precision Health Information and Publications on the Investigation and Control of COVID-19 and other Coronaviruses. BIORXIV. April 21, 2020. Yu W, Gwinn M, Khoury MJ.

Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome. J Cancer Educ. 2020 Feb;35(1):131-137. Allen CG, Roberts M, Andersen B, Khoury MJ.

DNA-Based Population Screening—Potential Suitability and Important Knowledge Gaps. JAMA 2020 Jan 28;323(4):307-308. Murray MF, Evans JP, Khoury MJ.

2019

Training the Twenty-First Century Cancer Epidemiologist. J Cancer Educ. 2019 Dec;34(6):1181-1189. Lam TK, Lavigne JA, Qadir X, Khoury MJ, Schully SD.

Pathogen Genomics in Public Health. N Engl J Med. 2019 Dec 26;381(26):2569-2580. Armstrong GL, MacCannell DR, Taylor J, Carleton HA, Neuhaus EB, Bradbury RS, Posey JE, Gwinn M.

Tracking human genes along the translational continuum. Genom Med. 2019 Oct 16; 4(25). Lee K, Clyne M, Yu W, Lu Z, Khoury MJ.

Cost-Effectiveness of Risk-Stratified Colorectal Cancer Screening Based on Polygenic Risk: Current Status and Future Potential. JNCI Cancer Spectrum 2019 October 14. Naber SK, Kundu S, Kuntz KM, Dotson WD, Williams MS, Zauber AG, Calonge N, Zallen DT, Ganiats TG, Webber EM, Goddard KA, Henrikson NB, van Bellegooijen M, Janssens AC, Lansdorp-Vogelaar I.

Cancer communication research in the era of genomics and precision medicine: a scoping review. Genet Med. 2019 Aug;21(8):1691-1698. Kaphingst KA, Peterson E, Zhao J, Gaysynsky A, Elrick A, Hong SJ, Krakow M, Pokharel M, Ratcliff CL, Klein WMP, Khoury MJ, Chou WS.

Perspective: The Clinical Use of Polygenic Risk Scores: Race, Ethnicity, and Health Disparities. Ethn Dis.2019 Jul 18;29(3):513-516. Roberts MC, Khoury MJ, Mensah GA.

Prevalence and Cardiovascular Health Impact of Family History of Premature Heart Disease in the United States: Analysis of the National Health and Nutrition Examination Survey, 2007–2014. J Am Heart Assoc. 2019 Jul 16;8(14):e012364. Mooneshinghe R, Yang Q, Zhang Z, Khoury MJ.

Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations. Circ Res. 2019 Jun 21;125(1):7-13. Mensah GA, Jaquish C, Srinivas P, Papanicolaou GJ, Wei GS, Redmond N, Roberts MC, Nelson C, Aviles-Santa L, Puggal M, Green Parker MC, Minear MA, Barfield W, Fenton KN, Boyce CA, Engelgau MM, Khoury MJ.

Family History-Wide Association Study for Identifying Clinical and Environmental Risk Factors for Common Chronic Diseases. Am J Epidemiol. 2019 Jun 7. pii: kwz125. Rasooly D, Ioannidis JPA, Khoury MJ, Patel CJ.

Harnessing the Power of Collaboration and Training Within Clinical Data Science to Generate Real‐World Evidence in the Era of Precision Oncology. Clinical Pharmacology & Therapeutics 2019 June 5. Rivera DR, Lee JS, Hsu E, Khoury MJ, Meng F, Olivero O, Penberthy L, Tourassi GD.

The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis. Genet Med. 2019 May;21(5):1218-1223. Roberts MC, Clyne M, Kennedy AE, Chambers DA, Khoury MJ.

HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2019 Mar;21(3):519-524. Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ.

Predictive Analytics: Helping Guide the Implementation Research Agenda at the National Heart, Lung, and Blood Institute. Glob Heart. 2019 Mar;14(1):75-79. Engelgau MM, Khoury MJ, Roper RA, Curry JS, Mensah GA.

Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field. Ethn Dis. 2019 Feb 21;29(Suppl 1):187-192. Roberts MC, Mensah GA, Khoury MJ.

Ten years of Genome Medicine. Genome Med. 2019 Feb 15;11(1):7. Auffray C, Griffin JL, Khoury MJ, Lupski JR, Schwab M.

Next-Generation Sequencing of Infectious Pathogens. JAMA. 2019 Feb 14. Gwinn M, MacCannell D, Armstrong GL.

Precision Medicine vs Preventive Medicine. JAMA. 2019 Jan 29;321(4):406. Khoury MJ.

Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework. Genet Med. 2019 Jan;21(1):28-37. Green RF, Ari M, Kolor K, Dotson WD, Bowen S, Habarta N, Rodriguez JL, Richardson LC, Khoury MJ.

Using deep learning to identify translational research in genomic medicine beyond bench to bedside. Database (Oxford). 2019 Jan 1;2019. Hsu YY, Clyne M, Wei CH, Khoury MJ, Lu Z.

2018

Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. National Academy of Medicine, Dec 3, 2018. Michael F. Murray, James P. Evans, Misha Angrist, Kee Chan,Wendy R. Uhlmann, Debra Lochner Doyle, Stephanie M. Fullerton, Theodore G. Ganiats, Jill Hagenkord, Sara Imhof, Sun Hee Rim, Leonard Ortmann, Nazneen Aziz, W. David Dotson, Ellen Matloff, Kristen Young, Kimberly Kaphingst, Angela Bradbury, Joan Scott, Catharine Wang, Ann Zauber, Marissa Levine, Bruce Korf, Debra G. Leonard, Catherine Wicklund, George Isham, Muin J. Khoury.

Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome. J Cancer Educ. 2018 Dec 3. Allen CG, Roberts M, Andersen B, Khoury MJ.

Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis. Public Health Genomics. 2018 Nov 22:1-7. Allen CG, Andersen B, Khoury MJ, Roberts MC.

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health. PLoS Medicine, 2018 Aug 2. Khoury M, Feero WG, Chambers DA, Brody LE, Aziz N, Green RC, Janssens AC, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn DM, Mensah GA.

Beyond Public Health Genomics: Can Big Data and Predictive Analytics Deliver Precision Public Health? Public Health Genomics. 2018 Jul 17; 21(5-6):244-250. Khoury MJ, Engelgau M, Chambers DA, Mensah GA.

From public health genomics to precision public health: a 20-year journey. Genet Med. 2018 Jun;20(6):574-582. Khoury MJ, Bowen MS, Clyne M, Dotson WD, Gwinn ML, Green RF, Kolor K, Rodriguez JL, Wulf A, Yu W.

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. Health Affairs. 2018 May. Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG, Green RF, Hurst GM, Philp AR, Ricker CN, Sturm AC. Trepanier AM, Williams JL, Zierhut HA, Wilemon KA, Hampel H.

Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis–Related Hospitalizations. Health Affairs. 2018 May. Feng LB, Grosse SD, Green RF, Fink AK, Sawicki GS.

Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014. Genet Med. 2018 Apr;20(4):428-434. Chen Z, Kolor K, Grosse SD, Rodriguez JL, Lynch JA, Green RF, Dotson WD, Bowen MS, Khoury MJ.

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system. Genet Med. 2018 Apr;20(4):390-396. Lu CY, Williams MS, Ginsburg GS, Toh S, Brown JS, Khoury MJ.

Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999–2014). Circulation. 2018 Mar 26. pii: CIRCULATIONAHA.117.032321. Bucholz EM, Rodday AM, Kolor K, Khoury MJ, de Ferranti SD.

Evidence-based medicine and big genomic data. Hum Mol Genet. 2018 Feb 20. Ioannidis JPA, Khoury MJ.

Communication of cancer-related genetic and genomic information: A landscape analysis of reviews. Transl Behav Med. 2018 Jan 29;8(1):59-70. Peterson EB, Chou WS, Gaysynsky A, Krakow M, Elrick A, Khoury MJ, Kaphingst KA.

The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014. Genet Med. 2018 Jan 25. Moonesinghe R, Beckles GLA, Liu T, Khoury MJ.

2017

Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. Genet Med. 2017 Oct;19(10):1081-1091. Phillips KA, Deverka PA, Sox HC, Khoury MJ, Sandy LG, Ginsburg GS, Tunis SR, Orlando LA, Douglas MP.

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis. Am J Epidemiol. 2017 Oct 15;186(8):1000-1009. Goldfeder RL, Wall DP, Khoury MJ, Ioannidis JPA, Ashley EA.

Editorial: Emergence of Gene-Environment Interaction Analysis in Epidemiologic Research. Am J Epidemiol. 2017 Oct 1;186(7):751-752. Khoury MJ.

In Reference to: “Cost and Utility of Thrombophilia Testing.” J Hosp Med. 2017 Sep;12(9):783. Berse B, Lynch JA, Bowen S, Grosse SD.

BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18–64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas—United States, 2009–2014. MMWR Surveill Summ. 2017 Sep 8;66(15):1-11. Kolor K, Chen Z, Grosse SD, Rodriguez JL, Green RF, Dotson WD, Bowen MS, Lynch JA, Khoury MJ.

Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data. Genet Med. 2017 Aug;19(8):890-899. Lynch JA, Berse B, Dotson WD, Khoury MJ, Coomer N, Kautter J.

The current state of implementation science in genomic medicine: opportunities for improvement. Genet Med. 2017 Aug;19(8):858-863. Roberts MC, Kennedy AE, Chambers DA, Khoury MJ.

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing. JAMA. 2017 Jul 25;318(4):381-382. Knowles JW, Rader DJ, Khoury MJ.

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine. JAMA. 2017 Jul 4;318(1):27-28. Khoury MJ.

Integrating advanced molecular technologies into public health. J Clin Microbiol. 2017 Mar;55(3):703-714. Gwinn M, MacCannell DR, Khabbaz RF.

Evaluating Precision Medicine’s Ability to Improve Population Health—Reply. JAMA. 2017 Jan 24;317(4):441. Khoury MJ, Galea S.

Trends in published meta-analyses in cancer research, 2008–2013. Cancer Causes Control. 2017 Jan;28(1):5-12. Qadir XV, Clyne M, Lam TK, Khoury MJ, Schully SD.